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De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene. | LitMetric

AI Article Synopsis

Article Abstract

Background: Tracheo-esophageal fistula (TEF) with/or without esophageal atresia (EA) is a common congenital malformation that is often accompanied by other anomalies. The causes of this condition are thought to be heterogeneous but are overall not well understood.

Case Report: We identified a patient with a TEF/EA, as well as cardiac and genitourinary anomalies, who was found to have a 0.7 Mb de novo deletion of chromosome 20q13.33. One gene within the deleted interval, GTPBP5, is of particular interest as a candidate gene.

Conclusions: GTPBP5 bears further study as a cause of TEF/EA accompanied by other malformations.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3193386PMC
http://dx.doi.org/10.1002/bdra.20821DOI Listing

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